Thursday, May 30, 2013

New HPS7 mutation discovered

Researchers in the United Kingdom have discovered a new mutation on the HPS7 gene. Previously, there was only one documented patient with HPS7. The new mutation was found in a patient with albinism and a bleeding history who was not diagnosed with HPS until she was 77 years old. She did have an extensive bleeding history and a Crohn’s diagnosis. She did not have any evidence of pulmonary fibrosis. 

How sad is it that this woman had so many HPS complications her entire life, yet never got an HPS diagnosis. We don’t think that type 7 causes pulmonary fibrosis, but it is not just the HPSers with gene types that cause pulmonary fibrosis who endure a lot. 

I also read another medical article today about someone diagnosed with HPS type 5 at 92! Let me say that again, 92! 

It is a lesson to say there are probably many people out there with HPS who are never diagnosed. It is a lesson to show that one should never use age as an exclusion for suspecting HPS. It’s also a lesson about how organizations serving people with albinism should help to educate their memberships about HPS. Even some of the “old timers” might benefit. 

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